This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.

Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.

Dent Disease

Diagnosis of Dent Disease, or a family member of someone with this diagnosis.

Cystinuria

Diagnosis of Cystinuria, or a family member of someone with this diagnosis.

APRT deficiency

Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis.

Detailed Description:

Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation.

Eligibility

Ages Eligible for Study:

Child, Adult, Senior

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

No

Sampling Method:

Non-Probability Sample

Study Population

Individuals with a confirmed Diagnosis of Primary Hyperoxaluria, Dent Disease, APRT deficiency or Cystinuria. Family members of individuals with these four diseases.

Criteria

Inclusion Criteria:

Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:

Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day) in the absence of a identifiable causes of secondary hyperoxaluria, including gastrointestinal disease known to cause enteric hyperoxaluria

A patient in end stage kidney failure, in whom neither a liver biopsy nor mutational analysis are available must have: (a) A plasma oxalate concentration of greater than 60 umol/L and a kidney biopsy confirming extensive oxalate deposits OR (b) Evidence of systemic oxalosis

Participants in the previous protocol "Tissue Bank of Urine, Blood, and Tissue Samples Collected from the Patients with Primary Hyperoxaluria" 'Mayo IRB #' #80-04. They have already consented to bank their samples and that consent will serve to enroll them in this study.

Diagnosis of Dent disease meeting one or more of the following criteria:

Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5)

Low molecular weight proteinuria and hypercalciuria

Low molecular weight proteinuria and nephrocalcinosis

Diagnosis of APRT disease meeting one or more of the following criteria:

Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.

Unwilling or unable to provide consent/assent.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02026388